ORPHA:220393
Diffuse cutaneous systemic sclerosis
Synonyms: Diffuse cutaneous systemic scleroderma · Progressive cutaneous systemic scleroderma · Progressive cutaneous systemic sclerosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse cutaneous systemic sclerosis | Diffuse cutaneous systemic scleroderma · Progressive cutaneous systemic scleroderma · Progressive cutaneous systemic sclerosis |
| fr | Sclérose systémique cutanée diffuse | Sclérodermie systémique cutanée diffuse · Sclérodermie systémique cutanée progressive · Sclérose systémique cutanée progressive |
| de | Systemische Sklerose, diffuse kutane | Sklerodermie, diffuse kutane systemische · Sklerose, kutane progressive systemische · Systemische Sklerodermie, progressive |
| es | Esclerosis sistémica cutánea difusa | Esclerodermia sistémica cutánea difusa · Esclerodermia sistémica cutánea progresiva · Esclerosis sistémica cutánea progresiva |
| it | Sclerosi sistemica cutanea diffusa | Sclerodermia sistemica cutanea diffusa · Sclerodermia sistemica cutanea progressiva · Sclerosi sistemica cutanea progressiva |
| nl | Diffuse cutane systemische sclerose | Diffuse cutane systemische sclerodermie · Progressieve cutane systemische sclerodermie · Progressieve cutane systemische sclerose |
| pt | Esclerose sistémica cutânea difusa | |
| pl | Systemowa rozlana twardzina skórna | Diffuse cutaneous systemic scleroderma Rozsiana skórna twardzina uogólniona · Progressive cutaneous systemic scleroderma Postępująca twardzina uogólniona · Twardzina skórna postępująca |
| cs | Systémová sklerodermie-sclerodermia diffusa | Difuzní forma systémové sklerodermie · Progresivní forma systémové sklerodermie · Progresivní forma systémové sklerózy |
| uk | Дифузний шкірний системний склероз | Дифузна шкірна системна склеродермія · Прогресуюча шкірна системна склеродермія · Прогресуючий шкірний системний склероз |
| zh | 弥漫性皮肤系统性硬化 | 皮进行性肤系统性硬皮病 |
| tr | Diffüz kutanöz sistemik skleroz | Yaygın kutanöz sistemik skleroderma · İlerleyici kutanöz sistemik skleroz · İlerleyici kutanöz sistemik skleroderma |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M34.0 | NTBT | attributed | validated |
| ICD-11 | 4A42.1 | E | specific | validated |
| MONDO | 0016356 | E | validated | |
| UMLS | C1258104 | E | validated | |
| GARD | 9751 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:90291Systemic sclerosis
rare cardiac diseases; rare respiratory diseases; rare skin diseases; rare renal diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood; rare transplant-related disorders
No children.
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Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAV1 | Major susceptibility factor in | Assessed | HGNC:1527 | ENSG00000105974 | 601047 | 7q31.2 | caveolin 1 | 22402147[PMID] |
| CCN2 | Major susceptibility factor in | Not yet assessed | HGNC:2500 | ENSG00000118523 | 121009 | 6q23.2 | cellular communication network factor 2 | |
| CCR6 | Major susceptibility factor in | Assessed | HGNC:1607 | ENSG00000112486 | 601835 | 6q27 | C-C motif chemokine receptor 6 | 23983073[PMID] |
| HLA-DRB1 | Major susceptibility factor in | Not yet assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | |
| IRF5 | Major susceptibility factor in | Assessed | HGNC:6120 | ENSG00000128604 | 607218 | 7q32.1 | interferon regulatory factor 5 | 23372721[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.8 / 100 000 | Taiwan, Province of China | Value and class | Not yet validated | 22899470[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.5 / 100 000 | Taiwan, Province of China | Value and class | Validated | 22899470[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000951 | Abnormality of the skin | |
| HP:0002960 | Autoimmunity | |
| HP:0002094 | Dyspnea | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0100958 | Narrow foramen obturatorium | |
| HP:0100520 | Oliguria | |
| HP:0002113 | Pulmonary infiltrates | |
| Frequent (79-30%) | ||
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0000670 | Carious teeth | |
| HP:0030016 | Dyspareunia | |
| HP:0002015 | Dysphagia | |
| HP:0001371 | Flexion contracture | |
| HP:0002024 | Malabsorption | |
| HP:0001324 | Muscle weakness | |
| HP:0002797 | Osteolysis | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0200042 | Skin ulcer | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0000217 | Xerostomia | |
| Occasional (29-5%) | ||
| HP:0030142 | Abnormal bowel sounds | |
| HP:0001635 | Congestive heart failure | |
| HP:0100735 | Hypertensive crisis | |
| HP:0002017 | Nausea and vomiting | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0000083 | Renal insufficiency | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/220393
- This record as JSON: /data/d/220393.json